The new research focused on just nine genes, those most strongly associated with autism in
recent sequencing studies, and investigated their effects using precise maps of gene expression during human brain development.
Large -
group sequencing studies of breast tumors have identified many prevalent mutations, but have provided limited insight to diversity.
Many of the variants involved in numerous types of cancer have been identified with
genetic sequencing studies of large numbers of patients.
In
exome sequencing studies of Mendelian disorders, any variant already present in dbSNP was usually common, and therefore unlikely to cause rare genetic diseases.
As a result, we're seeing exome and
genome sequencing studies published all over the place, not just in genetics / genomics journals but also many that focus on specific tissues (e.g. blood) or diseases (e.g. cancer, metabolic diseases, vision disorders, you name it).
I enjoyed showcasing our
targeted sequencing study of cleft lip, in which we used model systems in zebrafish and mice to functionally validate rare variants uncovered by sequencing known GWAS loci.
We believe that this is an important advantage for conducting large - scale whole
sequence studies over the next couple of years,» said Kari Stefansson, CEO of deCODE.
«
Gene sequencing study reveals unusual mutations in endometriosis: Findings advance search for new ways to classify aggressive forms of the disease.»
Their
DNA sequencing studies identified the various strains of the chytrid fungus, Batrachochytrium dendrobatidis or Bd for short, present in the frogs.
As a follow - up to my previous post, Disease - causing Mutations Discovered by NGS in 2011, I've attempted to compile cancer genome and exome
sequencing studies published last year.
The role of heredity in obesity appears to be between 40 and 70 percent, and next -
generation sequencing studies of whole genomes (GWAS) have uncovered about 100 common genetic variants that explain a small amount of variation leading to obesity.
The distribution of mutant genes was roughly consistent with expectations based on previous exome -
wide sequencing studies of BCs (Cancer Genome Atlas Research Network, 2014).
This $ 240 million initiative aims to sequence 200,000 genomes over the next four years, making it among the
largest sequencing studies in the world.
All seven were located in or near complement genes (that's «complement» as in the innate immune system complex), which had been implicated in AMD
by sequencing studies over the past couple of years.
Rudolph has retained some TMT projects, such as the pathogen -
sequencing studies led by Ian Lipkin of Columbia University in New York, who was a technical adviser on Contagion.
As part of ENCODE, 32 institutions did computer analyses, biochemical tests, and
sequencing studies on 147 cell types — six fairly extensively — to find out what each of the genome's 3 billion bases does.
Alexander Wyatt, Vancouver Prostate Centre, says: «Most
genomic sequencing studies have focused on the DNA, which gives us important information about a tumor's history.
«In early
RNA sequencing studies, researchers observed an abundance of tRNA fragments in cellular transcriptome but those fragments had often been disregarded as non-functional degradation products,» says Yohei Kirino, Ph.D., Assistant Professor in the Department of Biochemistry and Molecular Biology and a researcher at the Computational Medicine Center at Thomas Jefferson University.
A long stretch of DNA called a supergene explains the variety of bizarre tactics that a wading bird species deploys to win mates, a pair of genome -
sequencing studies concludes.
The CCDG award, when viewed in the light of the recent NIH budget increase, also presents a unique opportunity to seek funding for other large - scale common
disease sequencing studies that might be co-funded with other institutes.
The incredible growth of databases like dbSNP — fueled by large - scale
discovery sequencing studies — certainly provides millions of variants to choose from.
The several
GNCA sequences studied differ among themselves at 8 — 20 positions, which are, in essentially all cases, distal from the neighbourhood of the Kemp elimination active site (Supplementary Table 3).
Despite the plummeting costs afforded by newer instruments,
sequencing studies remain far more expensive than genotyping studies: exome sequencing costs 3 - 5x more, and whole genome sequencing costs 15 - 20x more.For genetic studies of common complex disease, many researchers now consider 10,000 samples the absolute minimum.
Within this consortium, she has conducted genome - wide association scans for over 75,000 participants and has undertaken one of the first large - scale whole - genome
sequencing studies for colorectal cancer, sequencing the whole genomes of 2,000 patients with colorectal cancer and 1,000 healthy control participants.
From
Fibonacci sequence studies of television channels to testing couple compatibility through fruit and vegetable shakes, do it makes use of an assortment of random and non-traditional objects to create art.
One of the longest - running of these, a
targeted sequencing study of GWAS regions for metabolic syndrome, just came out in PLoS Genetics.
The freely - available software package, MendelScan, is designed to help researchers score and prioritize candidate variants in family
exome sequencing studies of Mendelian disease.
I'm also the lead developer of VarScan, an open - source tool for germline and somatic variant calling in NGS data, and MendelScan, an open - source tool for prioritizing variants in family -
based sequencing studies.
In particular, genome -
wide sequencing studies have detected somatic mutations in one or more Eph receptors in 25 % -45 % of melanomas, 15 % -45 % of lung cancers, 25 - 40 % of colorectal cancers and 12 % -25 % of head and neck and uterine cancers (Figure 2), but very limited information is available on the effects of the mutations.
Katherine Meurs, DVM, PhD (Diplomate ACVIM Cardiology) at North Carolina State College of Veterinary Medicine initiated a genome
sequencing study in 2015 to try and locate genetic markers for this disease in the Persian breed in the hope that a genetic test might be established.
It's the kind of cohort that genetics researchers are currently salivating over, especially in the era of large -
scale sequencing studies.
The research team from the National Human Genome Research Institute (NHGRI) and the National Cancer Institute (NCI), both parts of NIH, extended their recent genome
sequencing study of skin bacteria, using DNA sequencing techniques optimized for identifying fungi.
In all, 14 of the mourners were infected and spread the virus to their contacts in Sierra Leone, stoking that country's epidemic, according to a DNA -
sequencing study that Garry, renowned Sierra Leonean virologist and doctor Sheik Humarr Khan, Harvard virologist Stephen Gire and 55 colleagues later published in Science.
The article constitutes the largest
sequencing study to date on the genes of representatives from eight sponge genera covering all four currently recognized sponge classes.
Wily adversary: In September, a genome
sequencing study of MERS - CoV revealed that the virus did not follow mathematically predicted patterns of transmission; it likely has transmission routes other than sick individuals, such as asymptomatic humans or an as - yet - unknown domestic animal host.
(The specific genes were also reported last fall in Nature Genetics from an exome -
sequencing study that included the two children).